Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015

Preferred Name	Thrombophilia due to protein C deficiency, autosomal recessive
Synonyms	THPH4
Definitions	(THPH4) - A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare.
ID	http://identifiers.org/omim/612304
altLabel	THPH4
definition	(THPH4) - A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare.
id	OMIM:612304
notation	OMIM:612304
prefLabel	Thrombophilia due to protein C deficiency, autosomal recessive
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://identifiers.org/omim/612304	GEXO	SAME_URI
http://identifiers.org/omim/612304	RETO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0012860	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_612304	CCO	LOOM
http://identifiers.org/omim/612304	GEXO	LOOM
http://identifiers.org/omim/612304	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/612304	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0012860	DOVES	LOOM